A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415989



Internal ID16057697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55603545..55650706hg38UCSC Ensembl
Innerchr11:55371021..55418182hg19UCSC Ensembl
Innerchr11:55127597..55174758hg18UCSC Ensembl
Innerchr11:55127597..55174758hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3847162
hg1947162
hg1847162
hg1747162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818826
Supporting Variants
SamplesNA12740
Known GenesOR4C11, OR4P4
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nssv1415989
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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